Inherited predisposition to acute myeloid leukaemia (AML)
Gene: ACDEnsemblGeneIds (GRCh38): ENSG00000102977
EnsemblGeneIds (GRCh37): ENSG00000102977
OMIM: 609377, Gene2Phenotype
ACD is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated AmberCreated: 18 Mar 2019, 4:29 p.m.
Paula Page (WWMGLH)
On the current WWMGLH Familial MDS/AML panel. Associated with telomere biology disorders. In the telomerase specific database no association with AML (although aplastic anaemia is present). Not specifically in the WHO/ELN or Godley guidelines unless it is counted as a telomere biology gene. Would recommend advice from Tom Vulliamy.
Sources: ResearchCreated: 7 Mar 2019, 12:34 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
- ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
- OMIM
- 609377
- Clinvar variants
- Variants in ACD
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Childhood solid tumours
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Pulmonary fibrosis familial
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Familial pulmonary fibrosis
- Familial melanoma
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 to ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: acd has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Paula Page (WWMGLH)gene: ACD was added gene: ACD was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Research Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 Penetrance for gene: ACD were set to unknown Review for gene: ACD was set to AMBER gene: ACD was marked as current diagnostic